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Your search keyword '"Ellingford, Jamie M."' showing total 3 results
Start Over Author "Ellingford, Jamie M." Journal clinical & experimental ophthalmology
3 results on '"Ellingford, Jamie M."'

3. Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.

Author

Ellingford, Jamie M, Sergouniotis, Panagiotis I, Jenkins, Emma, and Black, Graeme C

Subjects
*RETINAL degeneration, *RETINAL degeneration treatment, *OPTICAL coherence tomography, *NUCLEOTIDE sequence, *PATIENTS
Abstract

The article presents a case study of a 34-year-old female with a retinal dystrophy and with a peripheral choroidal melanoma. It mentions that fundoscopy and optical coherence tomography were consistent with a central macular caldera, and states the use of heterozygous single nucleotide within a DNase 1 hypersensitivity region adjacent to the PRDM13 gene. It also mentions the use of genome sequencing to identify a non-coding variant associated with a genetic eye disorder.

Published
2017
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